{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826972408",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 386,
          "referenceAllele": "T",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NP_001304852.1:p.Thr386Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA313145",
          "hgvs": "NM_001317923.2:c.1157C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA411648667",
          "hgvs": "NM_001317923.2:c.1156A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS644171"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203865[alleleid]",
        "alleleId": 203865,
        "preferredName": "NM_000026.4(ADSL):c.1349C>G (p.Thr450Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/204816",
        "RCV": [
          "RCV000186712",
          "RCV001781543"
        ],
        "variationId": 204816
      }
    ]
  },
  "type": "amino-acid"
}